Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003448410 | SCV004175932 | uncertain significance | FOXG1 disorder | 2023-10-13 | reviewed by expert panel | curation | The p.His318Leu variant in FOXG1 is absent from gnomAD (PM2_supporting). The p.His318Leu variant is observed in at least 1 unaffected individual (internal database - Invitae) (BS2_supporting). Computational prediction analysis tools are inconclusive for this variant. In summary, the p.His318Leu variant in FOXG1 is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PM2_supporting, BS2_supporting). |
Labcorp Genetics |
RCV001399568 | SCV001601358 | likely benign | Rett syndrome, congenital variant | 2020-06-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001762669 | SCV002000286 | uncertain significance | not provided | 2020-11-25 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge |